Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0026838 (spasticity)
 6,471 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Leukoencephalopathy with vanishing white matter can be diagnosed on the basis of distinct clinical and magnetic resonance imaging (MRI) findings. It is a recessively inherited disorder, most often presenting in young children. The clinical symptoms include a slowly progressive cerebellar ataxia, spasticity, variable optic atrophy, and relatively preserved mental capacities. In addition, there are episodes of rapid and major deterioration following infections with fever and minor head trauma. These episodes can end in unexplained coma. MRI findings suggest that over time there is a progressive vanishing of the abnormal white matter, which is replaced by cerebrospinal fluid. We performed a genome-wide search and localized a gene for vanishing white matter on chromosome 3q27. We demonstrated that mutations in the gene EIF2B5 cause the disease. This gene encodes one of the five subunits of the translation factor eIF2B. Patients without mutations in the EIF2B5 gene were found to be mutated in one of the other genes that encode eIF2B subunits: EIF2B1 to EIF2B4.
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PMID:Leukoencephalopathy with vanishing white matter: from magnetic resonance imaging pattern to five genes. 1457 43

Vanishing white matter disease (VWM; MIM #603896), also known as childhood ataxia with central nervous system hypomyelination (CACH) syndrome, is an autosomal recessive transmitted leukoencephalopathy related to mutations in each of the 5 genes (EIF2B1, EIF2B2, EIF2B3, EIF2B4 and EIF2B5) encoding for the 5 subunits of eukaryotic translation initiation factor 2B (eIF2B), essential for protein synthesis. VWM is characterised by ataxia, spasticity, variable optic atrophy and intermittent episodes of acute regression of clinical and neurological status. Another key step in diagnosis, besides clinical picture and gene sequencing, is magnetic resonance imaging (MRI), which typically shows a progressive rarefaction of the brain white matter, and its replacement by cerebrospinal fluid (CSF). In the present paper we summarise the up-to-date knowledge about VWM and include the full list of known mutations.
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PMID:The spectrum of mutations for the diagnosis of vanishing white matter disease. 1699 32